PAX9 Chromosome 14
Paired box 9
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What This Gene Does
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
Paired boxes
Locus Type
gene with protein product
Location
14q13.3
Ensembl
ENSG00000198807
Associated Conditions (7)
Tooth agenesis
selective
3
Hypodontia
PAX9-related disorder
Inborn genetic diseases
Oligodontia
Key Variants
RS143020311
Conflicting classifications of pathogenicity
Tooth agenesis, selective, 3
Health Risk
RS199777734
Conflicting classifications of pathogenicity
Hypodontia, Tooth agenesis, selective
Health Risk
RS200688741
Conflicting classifications of pathogenicity
Tooth agenesis, selective, 3
Health Risk
RS61754301
Conflicting classifications of pathogenicity
Tooth agenesis, selective, 3
Health Risk
RS1881346298
Likely pathogenic
Tooth agenesis, selective, 3
Health Risk
RS2139108573
Likely pathogenic
Tooth agenesis, selective, 3
Health Risk
RS2502236905
Likely pathogenic
Tooth agenesis, selective, 3
Health Risk
RS2502237209
Likely pathogenic
Tooth agenesis, selective, 3
Health Risk
RS2502237777
Likely pathogenic
Tooth agenesis, selective, 3
Health Risk
RS2502238046
Likely pathogenic
Tooth agenesis, selective, 3
Health Risk
RS2502238080
Likely pathogenic
Tooth agenesis, selective, 3
Health Risk
RS2502238210
Likely pathogenic
Tooth agenesis, selective, 3
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS28933971 | Health Risk | Pathogenic | Tooth agenesis, selective, 3 |
| RS28933972 | Health Risk | Pathogenic | Tooth agenesis, selective, 3 |
| RS587776350 | Health Risk | Pathogenic | Tooth agenesis, selective, 3 |
| RS763028737 | Health Risk | Pathogenic | Tooth agenesis, selective, 3 |
| RS764595344 | Health Risk | Pathogenic | Oligodontia, Oligodontia |